Base by Base

Base by Base

Base by Base explores advances in genetics and genomics, with a focus on gene-disease associations, variant interpretation, protein structure, and insights from exome and genome sequencing. Each episode breaks down key studies and their clinical relevance—one base at a time. Powered by AI, Base by Base offers a new way to learn on the go. Special thanks to authors who publish under CC BY 4.0, making open-access science faster to share and easier to explore.

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Avsnitt(443)

442: When pumps go missing: Ca2+ control of PMCA2 in Tmc1 deafness mutants

442: When pumps go missing: Ca2+ control of PMCA2 in Tmc1 deafness mutants

Rolseth AB et al., Proceedings of the National Academy of Sciences (PNAS) - This study links reduced Ca2+ entry through mutant TMC1 mechanotransducer channels to decreased PMCA2 pump density in outer ...

17 Aug 22min

441: Evolutionary mapping of Cav1.3 functional sites

441: Evolutionary mapping of Cav1.3 functional sites

Tang X et al., PNAS - The authors apply an evolutionary sequence-covariation model to the Cav1.3 (CACNA1D) α1-subunit, map predicted pathogenicity onto structural models, and validate five predicted s...

14 Aug 24min

440: DENV-4: Suppressing DNA Repair and Causing Genome Damage

440: DENV-4: Suppressing DNA Repair and Causing Genome Damage

Lamkina EN et al., PNAS - This episode reviews a PNAS brief report showing that DENV-4 infection induces marked DNA damage in infected cells while broadly suppressing transcription of DNA repair pathw...

12 Aug 23min

439: Coembedding Sequence and Structure: CLSS Maps the Protein Universe

439: Coembedding Sequence and Structure: CLSS Maps the Protein Universe

Longo LM et al., PNAS - This episode summarizes a PNAS study introducing CLSS, a contrastive two-tower protein language model that coembeds domain sequences, structures, and subsequences into a shared...

11 Aug 23min

438: Mapping AIRE: a proactive atlas of 9,790 missense variants

438: Mapping AIRE: a proactive atlas of 9,790 missense variants

Axakova A et al., The American Journal of Human Genetics - Axakova et al. generated a variant effect map for AIRE using an insulin‑promoter GFP reporter in HEK293 cells to measure the functional impac...

10 Aug 24min

437: Cell villages and Dirichlet modeling map human cell fitness genetics

437: Cell villages and Dirichlet modeling map human cell fitness genetics

Hanson C et al., The American Journal of Human Genetics - Hanson et al. combine pooled multi-donor human neural progenitor cell "villages" with Townlet, a hierarchical Dirichlet regression model, to e...

9 Aug 28min

436: KIAP4 and the ARND family: building the Leishmania adhesion plaque

436: KIAP4 and the ARND family: building the Leishmania adhesion plaque

Owino BO et al., PNAS - Using TurboID proximity proteomics and microscopy, researchers identify KIAP4 as the canonical member of a conserved Adhesion Related NTPase-like Domain (ARND) family that loca...

8 Aug 24min

435: E. coli TGT binds two tRNAs — cryo-EM reveals dual engagement

435: E. coli TGT binds two tRNAs — cryo-EM reveals dual engagement

Ember M et al., PNAS - This episode examines a cryo-EM study of Escherichia coli tRNA-guanine transglycosylase (TGT) that solves the enzyme structure and its covalent intermediate with tRNATyr. Unexpe...

7 Aug 19min

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